Clinical Trials for Klinefelter Syndrome

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Klinefelter Syndrome from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 45
• Recruiting: 6
• Active, not recruiting: 0
• Completed: 25
• Other: 14

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT05581147 — Thyroid Function and Structure in Klinefelter Syndrome

This is a longitudinal retrospective study for the evaluation of thyroid function and structure in patients with Klinefelter syndrome compared to healthy controls and patients affected by chronic lymphocytic thyroiditis.

NCT03396562 — The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early predictors of developmental and health outcomes. The Investigators will also evaluate different developmental screening tools in infants with sex chromosome variations …

NCT04463316 — GROWing Up With Rare GENEtic Syndromes

Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.

Incre…

NCT06373861 — Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)

GALAXY is a registry research study that plans to learn more about individuals with X&Y variations (also called sex chromosome aneuploidies) through collecting information from medical records.This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. The purpose of the GALAXY Registry is to collect and store this information…

NCT05586802 — Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome

The study seeks primarily to determine whether modulation of systemic and testicular sex steroids balance by aromatase inhibitors will positively affect the metabolic health and spermatogenesis of men with Klinefelter syndrome (KFS) as compared to the current state of the art for each issue.

Secondary objectives of this study are (i) to unravel the heterogeneity of the reproductive and metabol…

NCT06294990 — Klinefelter Syndrome and Testosterone Treatment in Puberty

The goal of this randomized clinical trial is to study the effect of testosterone replacement therapy during puberty in boys with Klinefelter syndrome (KS, 47,XXY).

The main questions to answer are how treatment with testosterone will affect body fat mass, lipid and glucose metabolism, growth and body proportions, bone mineralization as well as effects on neurocognitive development and emotion…

Not Yet Recruiting

NCT04252001 — Growing up With the Young Endocrine Support System (YESS!)

Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up (‘drop-out’) once the young adult moves out of paediatric care. Non-attendance and sub-optimal medical self-management can lead to serious and expensive medical complications. In a pilot study, adolescents sugges…

Enrolling by Invitation

NCT03836300 — Parent and Infant Inter(X)Action Intervention (PIXI)

The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes f…

NCT07304193 — Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

To conduct a comprehensive clinical investigation of electively aborted fetuses with sex chromosome disorders and their placentas, in parallel with analyses of epigenetic alterations and changes in gene expression in these fetuses and their placentas, with the aims to:

1. delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression i…

NCT07341412 — Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders

The aim of the project is to:

1. Investigate organ development and growth in fetuses with sex chromosome disorders;
2. Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life;
3. Delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple…

NCT07142135 — Long-term Systematic Follow-up of Patients With Klinefelter Syndrome Followed at the Department of Growth and Reproduction, Rigshospitalet

Klinefelter syndrome (KS) is the most frequent sex chromosome disorder affecting approximately 1:660 newborn boys. The prevalence of KS rises to 3-4% among infertile males and 10-15% in patients with non-obstructive azoospermia. KS is highly underdiagnosed, and diagnosis is often delayed. Phenotypic variability, and especially a presentation with mild clinical features, often leads to diagnosti…

Completed Trials

NCT00523835 — Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome

Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility. It is caused by the presence of extra X-chromosomes, the most common karyotype being 47,XXY. The phenotype is variable, but the most constant finding is small hyalinized testes, hypergonadotrophic hypogonadism, infertility, eunuchoid b…

NCT00348946 — Androgen Effect on Klinefelter Syndrome Motor Outcome

The purpose of this study is to evaluate the effects of low-dose androgen on the motor and cognitive development of boys with Klinefelter syndrome.

NCT00896272 — Adaptation Among Adolescents and Adults With Klinefelter Syndrome

This study aims to understand the impact of living with Klinefelter syndrome (KS) and the factors that contribute to adaptation in adolescents and adults. Individuals with KS may have variable symptoms, including hypogonadism, gynecomastia, learning disabilities, and delay and underdevelopment of secondary sexual characteristics. Perhaps the most challenging symptom of KS is infertility, which …

NCT01206270 — Androgen for Leydig Cell Proliferation

Patients with infertility often presents alterations at ultrasonographic examination of the testis. These alterations include a much higher incidence of small, multiple, non-palpable hypoechoic micro-nodules that can show internal vascularization. This finding often create alarm and anxiety, because it has to be placed in a differential diagnosis versus low-stage malignant germ cell tumors. Nev…

NCT00999310 — Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome

The purpose of this study is to investigate the following:

1. Whether Klinefelter Syndrome is associated with altered total and regional brain volumes and altered brain activity.
2. The influence of genetic factors and testosterone treatment on the neuropsychological phenotype, total and regional brain volumes and brain activity in men with Klinefelter syndrome.

NCT01703676 — Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome

This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients. Epigenetics and transcriptome-research will be directly linked to the metabolic and inflammatory pattern of actual patients to improve care for them. The Klinefelter Syndrome is one of the most common genetic disorders in men. The patients have one su…

NCT01750632 — Subcapsular Orchiectomy in Men With Klinefelter Syndrome

Men with Klinefelter syndrome undergo unilateral subcapsular ochiectomy, and the removed testicular tissue is examined for presence of sperm and cryopreserved in small pieces for fertility treatment and scientific purposes. Prior to operation blood samples are frozen in a biobank.

NCT01918280 — Fertility Preservation in Cases of Klinefelter Syndrome.

Klinefelter Syndrome (KS) is the most common sex chromosomal abnormalities (1/600 newborn males), and is characterized by a hypergonadism hypogonadism. Until few years ago, mostly non-mosaic KS was considered as a model of a complete male infertility although few KS (4-8%) have an oligospermia. Recent studies in adult with non-mosaic KS reported the possibility of sperm retrieval by testicular …

NCT02788136 — Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome

The study design included six visits. During the first visit (visit 0), the subjects underwent physical examination(height, weight, body mass index (BMI), arm span, and upper segment measurement) and testicular ultrasound (US) for the calculation of testicular volume. At 0800 h of day 0, all subjects provided a basal blood sample immediately followed by a single intramuscular injection of hCG o…

NCT01585831 — Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome

The purpose of this study is to determine if testosterone replacement therapy leads to changes in psychological factors and/or motor skills in adolescent males with 47,XXY (also called Klinefelter syndrome). This study will also evaluate whether certain genetic factors of the X chromosome affect the psychological or motor features of XXY/Klinefelter syndrome.

NCT01678261 — X-chromosome Inactivation, Epigenetics and the Transcriptome

The human genetic material consists of 46 chromosomes of which two are sex chromosomes. The sex-chromosome from the mother is the X and from the father the Y-chromosome. Hence a male consist of one Y and one X chromosome and a female of 2 X-chromosomes. Alterations in the number of sex-chromosomes and in particular the X-chromosome is fundamental to the development of numerous syndromes such as…

NCT01690013 — Life Quality and Health in Patients With Klinefelter Syndrome

Klinefelter syndrome is the most common sex-chromosome disorder in men with a prevalence of 1 in 660 men. The syndrome is associated with hypogonadism. Many patients with Klinefelter syndrome have psychological complaints and physical discomfort. Some patients report a positive effect of testosterone treatment, whereas others do not.

The aim of this study is:

(i) To investigate quality of lif…

NCT02109770 — Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

NCT05014997 — TyG Index Levels in Klinefelter Syndrome

It is well known that the frequency of cardiometabolic diseases are increased in patients with Klinefelter Syndrome. The triglyceride-glucose index (TyG index) is a simple surrogate marker of insulin resistance and is also associated with various cardiometabolic diseases. The aim of this study to investigate the TyG index levels and its relationship with insulin resistance and endothelial dysfu…

NCT01817296 — Klinefelter Fertility Preservation

Klinefelter syndrome occurs in 1 in 600 males and is a common cause of infertility in men. It appears scar tissue forms in these boys’ testicles, leading to progressive destruction over their lifetimes. Advanced reproductive technology can be used to surgically retrieve sperm from these individuals, but these methods have a 50% failure rate in adult Klinefelter patients. Younger men have higher…

NCT02414295 — Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection

Klinefelter syndrome KS is caused by an additional X chromosome in males (47,XXY). Clinical findings are nonspecific during childhood; thus, the diagnosis commonly is made during adolescence or adulthood in males who have small testes with hypergonadotropic hypogonadism and gynecomastia. Virtually all men with Klinefelter syndrome are infertile.

Approximately one in 1,000 boys is born with an …

NCT02061384 — RA-2 13-cis Retinoic Acid (Isotretinoin)

Men with infertility and normal hormone levels have few options for fertility treatment. Previous research work has suggested that men with infertility may have low levels of the active form of Vitamin A, called retinoic acid, in their testes. We think that giving men with low sperm counts retinoic acid may increase their sperm counts and improve their chances of fathering a pregnancy. We want …

NCT03704987 — Skeletal Health of Klinefelter Patients

This study compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers.

NCT02408445 — Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment

This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition. The Investigators know that older boys and men with Klinefelter syndrome often have more fat compared to muscle than adults without Klinefelter syndrome, but we do not know if this diffe…

NCT02526628 — Thrombosis and Neurocognition in Klinefelter Syndrome

The haemostatic balance and neurocognitive capability of men with Klinefelter syndrome is compared to healthy controls by using specific biochemical assays for coagulation and fibrinolysis and a selection of neuropsychological tests and brain fMRI. Furthermore, the effect of gonadal status and any effects of long- or short-term testosterone treatment on the above mentioned parameters are invest…

NCT02787486 — Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal abnormalities including biochemical screening tests and invasive procedures such as CVS or amniocentesis is available, regardless of age. Further, it is entirely up to…

NCT02723305 — Cardiometabolic Profiles of Boys With Klinefelter Syndrome

This study plans to learn more about how to measure the way the the body’s energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver. This is important to know so that investigators understand how hormones and an extra X chromosome relate to diseases such as diabetes, extra weight gain, heart disease and liver diseases.

NCT03325647 — TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about the effect of testosterone on early health and development. The study is a total of three visits over 6 months with assessments of motor skills, body composition (muscle and fat), and hormone levels. This is a randomized, placebo-controlled study but all infants will receive testosterone treatment durin…

NCT06396117 — Relationship Between Anogenital Distance, Serum AMH, and mTESE in Klinefelter Syndrome

Azoospermia, the absence of sperm in the ejaculate, affects approximately 1% of males and 15% of infertile men. Non-obstructive azoospermia (NOA) accounts for 60% of azoospermic patients, who rely solely on testicular sperm extraction (TESE) surgery for sperm harvesting. While conventional TESE (cTESE) and microdissection TESE (mTESE) are preferred methods, the lack of predictive biomarkers for…

NCT06687252 — Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon

Variations in genital development (VDG) account for 0.5% to 1% of births. Advances in ultrasound techniques, as well as in prenatal diagnosis techniques, particularly in genetics, have led to improvements in the prenatal diagnosis of these pathologies. However, to date, there is no consensus on etiological research and standardized management of these patients and their families, once VDG has b…

Other (Withdrawn)

NCT00347464 — Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome

Klinefelter syndrome, a congenital chromosomal abnormality with one or more extra X chromosomes, occurs in out of 400 live male births. The majority of Klinefelter men present with a 47, XXY karyotype. The “poly-X variant”, with the 49,XXXXY karyotype is uncommon. This syndrome, where subjects have two or more X chromosomes presents with primary hypogonadism, and, particularly if associated wit…

Other (Unknown)

NCT00891852 — Non-Invasive Determination of Fetal Chromosome Abnormalities

The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward’s syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task…

NCT02430584 — Whole Blood Specimen Collection From Pregnant Subjects

To obtain whole blood specimens from pregnant subjects to be used for research and development and clinical validation studies of prenatal assays.

NCT03809026 — The Potential of Sperm Retrieved by Micro-TESE to Fertilize Vitrified/Warmed Oocytes

Couples referred for microdissection-TESE (m-TESE) due to Klinefelter’s syndrome, maturation stop in the spermatogenesis, or failed retrieval of testicular spermatozoa by conventional techniques with needle or TruCut are included. The women are stimulated with FSH in IVF protocols and the aspirated oocytes vitrified with usual applied techniques. Fresh sperm retrieved by micro-TESE are used for…

Other (Terminated)

NCT02461303 — Fertility Assessment in Patients With Klinefelter Syndrome

Klinefelter syndrome is characterized by primary testicular failure and progressive infertility. The objective of this study is to determine if sperm are present and can be observed in semen samples of adolescent and young adult Klinefelter patients and to determine whether the presence of sperm correlates with physical and/or clinically obtained hormone measures of pubertal development.

This …

NCT05997706 — Unraveling the Klinefelter’s Disease Physiopathology

Organoid Model to unravel Klinefelter Syndrome infertility

Klinefelter Syndrome (KS) is characterized by the presence of an extra chromosome X in male (47,XXY), it is the most frequent genetic cause of azoospermia in adult men. The investigators will isolate and expand spermatogonial cells from KS patients, then using an organoid model investigators will compare the behavior of these Spermatog…

NCT04803474 — Turner And Klinefelter Treatment Target Study

Rationale: Health related Quality of life (HRQoL) is impaired in patients with Turner and Klinefelter syndrome (TS and KS). It is unknown what the optimal endocrine treatment target values are that maximize HRQoL in patients with these syndromes. Therefore the relation between HRQoL and biochemical parameters will be studied in large cohorts of patients with TS and KS. This information will giv…

NCT05425953 — Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype

Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities.

Patients participate in questionaries, dexa-scan of bones, f…

NCT05498090 — Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome

This study will learn more about how the body uses energy. Usually, the body uses sugars as energy first and then fats are used when the sugar stores are gone. Some people have trouble using fats as energy. This can lead to feeling tired, difficulty exercising, and storing too much fat where it does not belong (like in the muscle). It is believed that some boys and men with Klinefelter Syndrome…